A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25800008



Internal ID19173161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:72753878..72763191hg38UCSC Ensembl
Innerchr6:73463601..73472914hg19UCSC Ensembl
Innerchr6:73520322..73529635hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg389314
hg199314
hg189314
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890878
Supporting Variants
Samples
Known GenesKCNQ5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=6
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25800008
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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